Canonical Allele Identifier: CA380962790

Gene: BSCL2 HNRNPUL2-BSCL2

Linked Data

• MyVariant Identifiers: chr11:g.62460182T>G (hg19) ; chr11:g.62692710T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62692710T>G , CM000673.2:g.62692710T>G	GRCh38
NC_000011.9:g.62460182T>G , CM000673.1:g.62460182T>G	GRCh37
NC_000011.8:g.62216758T>G	NCBI36
NG_008461.1:g.21865A>C
NG_033077.1:g.2190A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412351.2:n.910A>C (BSCL2)
ENST00000449636.6:c.226A>C (BSCL2)	ENSP00000405265.2:p.Lys76Gln
ENST00000524862.6:c.718A>C (BSCL2)	ENSP00000433888.2:p.Lys240Gln
ENST00000682003.1:n.809-237A>C (BSCL2)
ENST00000682223.1:c.718A>C (BSCL2)	ENSP00000508140.1:p.Lys240Gln
ENST00000682262.1:c.631-1289A>C (BSCL2)	ENSP00000507103.1:n.631-1289A>C
ENST00000682555.1:c.636A>C (BSCL2)	ENSP00000507814.1:p.Arg212Ser
ENST00000682644.1:n.1110A>C (BSCL2)
ENST00000682794.1:n.1028A>C (BSCL2)
ENST00000683025.1:c.*365A>C (BSCL2)	ENSP00000507028.1:n.*365A>C
ENST00000683296.1:c.718A>C (BSCL2)	ENSP00000507725.1:p.Lys240Gln
ENST00000683368.1:n.909A>C (BSCL2)
ENST00000683494.1:n.1110A>C (BSCL2)
ENST00000683846.1:n.1058A>C (BSCL2)
ENST00000683892.1:n.1220A>C (BSCL2)
ENST00000684067.1:c.718A>C (BSCL2)	ENSP00000506799.1:p.Lys240Gln
ENST00000684115.1:n.1110A>C (BSCL2)
ENST00000684258.1:n.1146A>C (BSCL2)
ENST00000684285.1:c.*225A>C (BSCL2)	ENSP00000507669.1:n.*225A>C
ENST00000684475.1:c.631-237A>C (BSCL2)	ENSP00000507429.1:n.631-237A>C
ENST00000684609.1:n.1110A>C (BSCL2)
ENST00000684720.1:n.1110A>C (BSCL2)
ENST00000360796.10:c.718A>C (BSCL2) MANE Select	ENSP00000354032.5:p.Lys240Gln
ENST00000679883.1:c.718A>C (BSCL2)	ENSP00000505838.1:p.Lys240Gln
ENST00000278893.11:c.526A>C (BSCL2)	ENSP00000278893.7:p.Lys176Gln
ENST00000301781.10:c.663A>C (BSCL2)	ENSP00000301781.5:p.Arg221Ser
ENST00000360796.9:c.718A>C (BSCL2)	ENSP00000354032.5:p.Lys240Gln
ENST00000403098.6:c.40A>C (BSCL2)	ENSP00000384258.2:p.Lys14Gln
ENST00000403550.5:c.526A>C (BSCL2)	ENSP00000385561.1:p.Lys176Gln
ENST00000403734.2:c.*769A>C (HNRNPUL2-BSCL2)	ENSP00000456010.1:n.*769A>C
ENST00000405837.5:c.718A>C (BSCL2)	ENSP00000385332.1:p.Lys240Gln
ENST00000407022.7:c.526A>C (BSCL2)	ENSP00000384080.3:p.Lys176Gln
ENST00000412351.1:n.316A>C (BSCL2)
ENST00000421906.5:c.526A>C (BSCL2)	ENSP00000413209.1:p.Lys176Gln
ENST00000448568.6:c.526A>C (BSCL2)	ENSP00000413340.2:p.Lys176Gln
ENST00000468505.5:n.88A>C (BSCL2)
ENST00000526426.1:n.233A>C (BSCL2)
ENST00000531524.5:c.319A>C (BSCL2)	ENSP00000436026.1:p.Lys107Gln
ENST00000532115.5:n.145-237A>C (BSCL2)
NM_001122955.3:c.718A>C (BSCL2)	NP_001116427.1:p.Lys240Gln
NM_001130702.2:c.526A>C (BSCL2)	NP_001124174.2:p.Lys176Gln
NM_032667.6:c.526A>C (BSCL2)	NP_116056.3:p.Lys176Gln
NR_037946.1:n.3238A>C (HNRNPUL2-BSCL2)
NR_037948.1:n.1320A>C (BSCL2)
NR_037949.1:n.1320A>C (BSCL2)
NM_001122955.4:c.718A>C (BSCL2) MANE Select	NP_001116427.1:p.Lys240Gln
NM_001386027.1:c.718A>C (BSCL2)	NP_001372956.1:p.Lys240Gln
NM_001386028.1:c.718A>C (BSCL2)	NP_001372957.1:p.Lys240Gln